(SALT LAKE CITY)--A gene mutation associated with a rare sleep disorder surprisingly also contributes to debilitating migraines, a new study led by University of Utah researchers shows. The discovery ...
A disorder called hereditary hemochromatosis, caused by a gene mutation, results in the body absorbing too much iron, leading to tissue damage and conditions like liver disease, heart problems and ...
February 27, 2009 — Researchers have identified a mutation in THAP1 that cosegregates with primary torsion dystonia in affected members of 3 Amish-Mennonite families, according to an article published ...
Scientists have identified several new genetic mutations linked to a rare neurodegenerative disease called CSF1R-related disorder (CSF1R-RD). The disease is gaining recognition as the use of genetic ...
The NF-κB signaling pathway plays a pivotal role in how our bodies fight infection, heal, and regulate inflammation. At the heart of this pathway is the NEMO protein, encoded by the IKBKG gene. When ...
BUFFALO, N.Y. – Imagine waking up one day and finding that you are suddenly having difficulty swallowing, walking and talking. You start experiencing involuntary muscle contractions called dystonias.